A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13211283



Internal ID5157881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61528225..61528603hg38UCSC Ensembl
Innerchr8:61528244..61528584hg38UCSC Ensembl
Outerchr8:61528206..61528622hg38UCSC Ensembl
chr8:62440784..62441162hg19UCSC Ensembl
Innerchr8:62440803..62441143hg19UCSC Ensembl
Outerchr8:62440765..62441181hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617391
Supporting Variants
SamplesNA18592
Known GenesASPH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13211283
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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